ACER2
Description
Acer2, also known as the aldehyde dehydrogenase 2, is a critical enzyme that plays a crucial role in the metabolism of various molecules, including aldehydes and retinoids. Aldehydes are toxic intermediates produced during cellular processes, while retinoids are essential for vision and gene expression. Acer2 converts aldehydes into harmless compounds, preventing cellular damage, and participates in the synthesis of retinoids, ensuring proper eye development and function.
Associated Diseases
Dysregulation of Acer2 activity is linked to several diseases and disorders:
- Retinoid Disorders: Mutations in the Acer2 gene can lead to retinoid disorders, such as Leber‘s congenital amaurosis (LCA) and retinitis pigmentosa (RP), causing severe visual impairment or blindness.
- Neurodegenerative Diseases: Reduced Acer2 activity has been implicated in neurodegenerative diseases, including Parkinson‘s disease and Alzheimer‘s disease. Aldehyde accumulation due to Acer2 deficiency contributes to oxidative stress and neuronal damage in these conditions.
- Cancer: Altered Acer2 expression is associated with the development and progression of certain types of cancer. Increased Acer2 activity promotes cancer cell proliferation and survival, providing a potential therapeutic target for cancer treatment.
- Cardiovascular Disease: Acer2 deficiency has been linked to increased oxidative stress and inflammation in the heart, contributing to the development of cardiovascular disease.
Did you Know ?
- Mutations in the Acer2 gene account for approximately 10% of cases of LCA, a rare genetic disorder that affects vision.
